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Article

Identification of a new mutation, S305C, in exon 7 of the low-density lipoprotein receptor gene in a Brazilian family with homozygous familial hypercholesterolemia.

Genetic testing - 1 Jan 2003

van de Kerkhof Laura, Van Eijk Silvia J, Defesche Joep C, Dos-Santos José-Ernesto

Abstract excerpt

DNA analysis of the low-density lipoprotein receptor gene of a young Brazilian man, suffering from an extreme form of hypercholesterolemia, revealed the presence of two mutations, thereby confirming the diagnosis of homozygous familial hypercholesterolemia (FH). The first mutation was a mutation frequently found in Brazilian patients with FH, termed C660X or FHLebanese. The second mutation, in which a serine...

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PMID: 12820708
DOI: 10.1089/109065703321560994

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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